Gierke's syndrome

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Von Gierke’s is relatively common in a group of hereditary glycogen-storage diseases. This progressive disease is an inborn error of glycogen metabolism due to glucose-6-phosphatase (G6P) deficiency, involving chiefly the liver and kidneys. The liver may become huge and contain as much as 15 percent of glycogen.

The symptoms are usually present at birth or appear shortly thereafter. A very long list of symptoms and clinical signs includes failure to thrive, convulsions (hypoglycaemic), retarded growth without disproportion; prominent abdomen due to massive hepatomegaly; adiposity with accumulation of fat in the cheeks, buttocks, and subcutaneous tissues; bleeding tendency; epistaxis; occasionally, steatorrhea; lumbar lordosis; adiposity; skin yellowish xanthomas over joints and buttocks. The muscles are flabby and poorly developed. Gout-related signs.

Parenchymal rather than reticuloendothelial cells are involved. Deposition in the heart is known as Pompe's syndrome, in the skeletal muscles as McArdle's syndrome.

The disorder occurs in only about 1 in 200,000 persons, affecting both sexes. Afflicted individuals who survive into adulthood suffer primarily from hyperuricaemia and hepatoma. The syndrome is transmitted as an autosomal recessive trait. This was the first recessively inherited disorder shown to be due to deficient activity of a specific intracellular enzyme.

von Gierke gave his account of the association of liver enlargement and disturbed glycogen metabolism in 1929. Simon van Creveld gave further details of the same disorder in 1932 and thereafter the condition was awarded syndromic autonomy. The conjoined eponym enjoyed some favour but the single form is now generally accepted.

According to some authors, the disease that carries von Gierke’s name is not the one that he described in 1929. They maintain that von Gierke's patient probably had a deficiency of the glycogen debranching enzyme.

We thank Frans Huijing for information submitted. Huijing is Professor of Biochemistry and Molecular Biology, University of Miami Schoool of Medicine.

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